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Article

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.

Journal of medical genetics - 1 Nov 1991

Casals T, Nunes V, Lázaro C, Giménez F J, Girbau E, Volpini V, Estivill X

Abstract excerpt

We have analysed haplotypes for four DNA polymorphisms, closely linked to the cystic fibrosis (CF) gene, in 82 Spanish families, in which the CF probands are either homozygous for non-delta F508 mutations or heterozygous for the delta F508 deletion and other CF mutations. The analysis provides genetic data for a new polymorphism for the closely linked marker pKM.19, which is very strongly associated with CF....

Topics

Chromosome Deletion
Cystic Fibrosis
DNA
Female
Genetic Counseling
Haplotypes
Humans
Linkage Disequilibrium
Male
Mutation
Pedigree
Polymorphism, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spain

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Identifiers

PMID: 1770534
DOI: 10.1136/jmg.28.11.771
PMCID: PMC1017113

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1770534-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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